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|Type:||Artigo de periódico|
|Title:||A novel beta-globin variant: Hb Pocos de Caldas [beta 61(E5)Lys -> Gln]|
|Abstract:||A novel hemoglobin (Hb) variant was found during a screening program for hemoglobinopathies in blood donors at the Hematology Center of the State University of Campinas, Campinas, Brazil. The carrier was a 30-year-old Caucasian woman of Native Indian and Italian origin, born in Pocos de Caldas, a city in the State of Minas Gerais, Southeastern Brazil. The new Hb was distinguished as an abnormal band, faster than Hb A, at alkaline pH (Fig. I a), that moved like Hb A at acid pH.() Isoelectrofocusing (IEF) with an REP Hemoglobin IEF Kit (Helena Laboratories, Beaumont, TX, USA), at pH ranges varying from 6.0 to 8.0, showed a fast band moving to the anode (Fig. 1b). Urea Triton X-100 polyacrylamide gel electrophoresis() showed the presence of a beta chain variant that was barely discernible from the normal beta chain (Fig. 1c). Stability tests() were normal. The Hb oxygen equilibria were performed by the method of Rossi-Fanelli and Antonini,() in stripped Hb and in the presence of organic polyphosphate at a pH between 7.0 and 8.0. Corroborating the clinical manifestation, Hb Pocos de Caldas showed functional properties similar to that of normal Hb. [GRAPHICS] Molecular analyses involved the amplification of a 661 bp fragment of the beta-globin gene, using primers P1 (5'-GCCAAGGACAGGTACGGCTGTCATC-3') DNA opposite strand and familial analysis, which revealed that the carrier's mother, brother, and sister also have the same beta-globin alteration (see Table 1). This is the fourth description of a mutation at beta61(E5)Lys: Hb N-Seattle (-->Glu) was found in a Black American blood donor,() Hb Hikari (-->Asn) detected in a Japanese family() and Hb Bologna (-->Met) encountered in a North Italian family.() The mutations found at this position (external contacts of the Hb molecule) do not cause clinical manifestations, since all the carriers described so far have been asymptomatic.|
|Editor:||Marcel Dekker Inc|
|Appears in Collections:||Artigos e Materiais de Revistas Científicas - Unicamp|
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